Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting

Next generation sequencing is transforming clinical medicine and genome research, providing a powerful route to establishing molecular diagnoses for genetic conditions; however, challenges remain given the volume and complexity of genetic variation. A number of methods integrate patient phenotype an...

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Detalles Bibliográficos
Autores principales: Pengelly, Reuben J., Alom, Thahmina, Zhang, Zijian, Hunt, David, Ennis, Sarah, Collins, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647373/
https://www.ncbi.nlm.nih.gov/pubmed/29044180
http://dx.doi.org/10.1038/s41598-017-13841-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647373/
https://www.ncbi.nlm.nih.gov/pubmed/29044180
http://dx.doi.org/10.1038/s41598-017-13841-y

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